References

Bowman-Smart H, Savulescu J, Mand C, Gyngell C, Pertile MD, Lewis S, Delatycki MB. ‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications. Journal of Medical Ethics. 2018; 45:231-238 https://doi.org/10.1136/medethics-2018-105167

Department of Health and Social Care. Safer screening test for pregnant women. 2016. https://www.gov.uk/government/news/safer-screening-test-for-pregnant-women (accessed 20 November 2019)

Don't Screen Us Out. Petition signed by over 900 people with Down's syndrome and their families opposing “discriminatory” prenatal screening proposal delivered to Jeremy Hunt. 2018. https://dontscreenusout.org/press-release-people-downs-syndrome-families-deliver-petition-signed-900-people-downs-syndrome-families-opposing-discriminatory/ (accessed 20 November 2019)

‘I nearly aborted my baby because of an unreliable test’. 2019. https://www.bbc.co.uk/news/stories-47150878 (accessed 20 November 2019)

Ngan OMY, Yil H, Wong SYS, Sahota D, Ahmed S. Obstetric professionals' perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications. BMC Pregnancy and Childbirth. 2017; 17 https://doi.org/10.1186/s12884-017-1474-6

Nuffield Council on Bioethics. Non-invasive prenatal testing: ethical issues. 2017. https://nuffieldbioethics.org/publications/non-invasive-prenatal-testing (accessed 20 November 2019)

NIPT implementation: how professionals felt about our face-to-face training and development events. 2018. https://phescreening.blog.gov.uk/2018/09/19/nipt-implementation-how-professionals-felt-about-our-face-to-face-training-and-development-events/ (accessed 20 November 2019)

Suter SM. The tyranny of choice: reproductive selection in the future. Journal of Law Biosciences. 2018; 5:(2)262-300 https://doi.org/10.1093/jlb/lsy014

Non-invasive prenatal testing and decision-making

02 January 2020
Volume 28 · Issue 1

Abstract

George F Winter shares his views on NIPT and how it influences decision-making

The phrase ‘tyranny of choice’ has been widely used in recent years to illustrate the increasing range of options that are available to consumers in the developed world. But Suter (2018) uses the term to highlight how reproductive decision-making can sometimes be challenging as a result of technological advances, such as non-invasive prenatal testing (NIPT).

In 2016, the Department of Health and Social Care (2016) announced that on the recommendation of the UK National Screening Committee, it had approved NIPT for Down, Edwards' and Patau's syndromes; an accurate maternal blood screening test is undertaken between 10- and 14-weeks' gestation to check for fetal DNA fragments. In 2018, Public Health England reported on the success of eight training events that had been held in preparation for the implementation of an evaluative rollout of NIPT to the fetal anomaly screening pathway, and which had been attended by more than 400 people, including screening midwives, midwives, sonographers and obstetricians (Segalini, 2018).

Hayward (2019), however, notes not only that NIPT has been available privately in the UK since 2012 at a cost of up to £500, but that when used to detect conditions other than Down, Edwards' and Patau's syndromes - such as Turner syndrome - it is unreliable. This was demonstrated by the case of Claire Belle who considered a termination after being told by a private clinic that her unborn daughter might be at risk of Turner syndrome … based on an unreliable test (Hayward, 2019).

Given the rapid progress in molecular diagnostic techniques, it is conceivable that soon the existing NIPT for Down, Edwards' and Patau's syndromes could be extended to Turner syndrome and other rare genetic conditions. This raises ethical issues, and the Nuffield Council on Bioethics (2017) warned that the introduction of NIPT into the NHS could result in more terminations of pregnancy following a diagnosis of Down, Edwards' or Patau's syndrome, raising the spectre of eugenics: ‘Making NIPT available in the NHS could be perceived as sending negative and hurtful messages about the value of people with the syndromes being tested for’.

In this context, it was interesting to note that in the document's foreword, Professor Tom Shakespeare – Chair of the Nuffield Working Group – observed: ‘As someone with an inherited genetic condition, prenatal screening has shadowed my whole life … Genetic knowledge has advantages but also generates potential pitfalls' (Nuffield Council on Bioethics, 2017). Perhaps one potential pitfall was highlighted in October 2018, when Don't Screen Us Out (2018) presented a petition to then Health Secretary Jeremy Hunt, signed by over 900 people with Down syndrome and their families opposing what they deemed to be a ‘discriminatory’ NIPT proposal.

How do healthcare professionals and women view NIPT? In their Hong Kong-based cross-sectional survey of 237 midwives and 90 obstetricians, Ngan et al (2017) found that obstetricians had greater certainty in the perceived clinical usefulness of NIPT for the detection of Down syndrome compared to midwives; public sector healthcare professionals deemed NIPT to be less clinically useful than those in the private sector; and the early detection of Down syndrome using NIPT raised ethical concerns about increasing abortion. In an Australian survey of 235 women who had undertaken NIPT, Bowman-Smart et al (2018) investigated views on existing and possible future NIPT, finding that 99.1% supported NIPT for Down syndrome screening, with 42.9% reporting they would consider abortion following a diagnosis of the condition.

Bowman-Smart (2018) also noted that whereas the Nuffield Council on Bioethics (2017) favoured restricting NIPT to determine the sex of the fetus, this was already routine in Australia, confirming that the pace of technological development often outstrips the extent to which society can address the ethical questions that arise from such developments.